List of variants reported as pathogenic for Ellis-van Creveld syndrome by Dan Cohn Lab,University Of California Los Angeles

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	rs137852924
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)	rs769864196
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)	rs761707323
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)	rs149898884
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)	rs765269619

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.